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Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the following mutations could explain the abnormal splicing of the mutated XPC gene? Choose one: O A. Mutation of exon junction site O B. Mutation of lariat branch point O C. Mutation of 5' splice site OD. Mutation of 3' splice site

Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the following mutations could explain the abnormal splicing of the mutated XPC gene? Choose one: O A. Mutation of exon junction site O B. Mutation of lariat branch point O C. Mutation of 5' splice site OD. Mutation of 3' splice site

Medical Terminology for Health Professions, Spiral bound Version (MindTap Course List)
Medical Terminology for Health Professions, Spiral bound Version (MindTap Course List)
8th Edition
ISBN:9781305634350
Author:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. Schroeder
Publisher:Ann Ehrlich, Carol L. Schroeder, Laura Ehrlich, Katrina A. Schroeder
Chapter3: The Skeletal System
Section: Chapter Questions
Problem 42LE: CR __________________________________
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The animated figure below shows formation of the lariat during mRNA splicing. Consider this figure as you answer the following question.

A
Transcribed Image Text:A
The animated figure shows the normal splicing process used to remove introns from eukaryotic mRNA. The XPC gene codes for a protein that functions in DNA repair. This gene contains 16 exons with the first 5 shown in Figure A. Defects in splicing can lead to human disease. Individuals with xeroderma pigmentosum have high levels of skin cancer due to defects in the nucleotide excision DNA repair process because of nonfunctional XPC protein. DNA damage caused by exposure to the UV rays in sunlight is not repaired leading to mutations in critical genes that control the cell cycle leading to high rates of skin cancer. Several members of a particular family were found to have a mutation in intron 3 of the XPC DNA repair gene (Figure B). The mutation disrupted normal splicing leading to skipping of exon 4 and little to no functional XPC protein in their cells. (A) (B) exon 1 exon 1 exon 2 exon 3 exon 2 exon 4 SPLICING 4 functional XPC protein intron 3 mutation exon 3 SPLICING 35 mRNA mRNA exon S exon 5 Choose one: O A. Mutation of exon junction site O B. Mutation of lariat branch point O C. Mutation of 5' splice site O D. Mutation of 3' splice site pre-mRNA transcript pre-mRNA transcript nonfunctional XPC protein Figure A. The pre-mRNA transcript spanning the first 5 exons of the XPC gene is shown with introns (yellow) between the exons. Splicing removes the introns, generating the functional mRNA Figure B. The intron 3 mutation leads to skipping of exon 4 and nonfunctional XPC protein. Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the following mutations could explain the abnormal splicing of the mutated XPC gene?
Transcribed Image Text:The animated figure shows the normal splicing process used to remove introns from eukaryotic mRNA. The XPC gene codes for a protein that functions in DNA repair. This gene contains 16 exons with the first 5 shown in Figure A. Defects in splicing can lead to human disease. Individuals with xeroderma pigmentosum have high levels of skin cancer due to defects in the nucleotide excision DNA repair process because of nonfunctional XPC protein. DNA damage caused by exposure to the UV rays in sunlight is not repaired leading to mutations in critical genes that control the cell cycle leading to high rates of skin cancer. Several members of a particular family were found to have a mutation in intron 3 of the XPC DNA repair gene (Figure B). The mutation disrupted normal splicing leading to skipping of exon 4 and little to no functional XPC protein in their cells. (A) (B) exon 1 exon 1 exon 2 exon 3 exon 2 exon 4 SPLICING 4 functional XPC protein intron 3 mutation exon 3 SPLICING 35 mRNA mRNA exon S exon 5 Choose one: O A. Mutation of exon junction site O B. Mutation of lariat branch point O C. Mutation of 5' splice site O D. Mutation of 3' splice site pre-mRNA transcript pre-mRNA transcript nonfunctional XPC protein Figure A. The pre-mRNA transcript spanning the first 5 exons of the XPC gene is shown with introns (yellow) between the exons. Splicing removes the introns, generating the functional mRNA Figure B. The intron 3 mutation leads to skipping of exon 4 and nonfunctional XPC protein. Studying the gene further in vitro showed that the U2 snRNP did not bind to the mutated RNA from affected patients. Which of the following mutations could explain the abnormal splicing of the mutated XPC gene?
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